{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,16]],"date-time":"2026-09-16T03:45:20Z","timestamp":1789530320257,"version":"build-2803163510"},"reference-count":21,"publisher":"Springer Science and Business Media LLC","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":[],"published-print":{"date-parts":[[2023,6,9]]},"DOI":"10.7759\/cureus.40185","type":"journal-article","created":{"date-parts":[[2023,6,9]],"date-time":"2023-06-09T15:44:31Z","timestamp":1686325471000},"source":"Crossref","is-referenced-by-count":1,"title":["Variability of Clinical Presentation in Patients Heterozygous for the F508del Cystic Fibrosis Variant: A Series of Three Cases and a Review of the Literature"],"prefix":"10.7759","author":[{"given":"Caitlin M","family":"Raymond","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Simon P","family":"Gaul","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Song","family":"Han","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Gengming","family":"Huang","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Jianli","family":"Dong","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"297","reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2015.10","article-title":"Cystic fibrosis","volume":"1","author":"Ratjen F","year":"2015","unstructured":"Ratjen F, Bell SC, Rowe SM, Goss CH, Quittner AL, Bush A. Cystic fibrosis. Nat Rev Dis Primers. 2015, 1:15010. 10.1038\/nrdp.2015.10","journal-title":"Nat Rev Dis Primers"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(16)00576-6","article-title":"Cystic fibrosis","volume":"19","author":"Elborn JS","year":"2016","unstructured":"Elborn JS. Cystic fibrosis. Lancet. 2016, 19:2519-31. 10.1016\/S0140-6736(16)00576-6","journal-title":"Lancet"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2022.09.011","article-title":"ECFS standards of care on CFTR-related disorders: updated diagnostic criteria","volume":"21","author":"Castellani C","year":"2022","unstructured":"Castellani C, De Boeck K, De Wachter E, Sermet-Gaudelus I, Simmonds NJ, Southern KW. ECFS standards of care on CFTR-related disorders: updated diagnostic criteria. J Cyst Fibros. 2022, 21:908-21. 10.1016\/j.jcf.2022.09.011","journal-title":"J Cyst Fibros"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2022.09.005","article-title":"ECFS standards of care on CFTR-related disorders: diagnostic criteria of CFTR dysfunction","volume":"21","author":"Sermet-Gaudelus I","year":"2022","unstructured":"Sermet-Gaudelus I, Girodon E, Vermeulen F, et al.. ECFS standards of care on CFTR-related disorders: diagnostic criteria of CFTR dysfunction. J Cyst Fibros. 2022, 21:922-36. 10.1016\/j.jcf.2022.09.005","journal-title":"J Cyst Fibros"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1111\/j.1432-1033.1992.tb16911.x","article-title":"Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia","volume":"206","author":"Bremer S","year":"1992","unstructured":"Bremer S, Hoof T, Wilke M, et al.. Quantitative expression patterns of multidrug-resistance P-glycoprotein (MDR1) and differentially spliced cystic-fibrosis transmembrane-conductance regulator mRNA transcripts in human epithelia. Eur J Biochem. 1992, 206:137-49. 10.1111\/j.1432-1033.1992.tb16911.x","journal-title":"Eur J Biochem"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/3.7.1141","article-title":"Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells","volume":"3","author":"Hull J","year":"1994","unstructured":"Hull J, Shackleton S, Harris A. Analysis of mutations and alternative splicing patterns in the CFTR gene using mRNA derived from nasal epithelial cells. Hum Mol Genet. 1994, 3:1141-6. 10.1093\/hmg\/3.7.1141","journal-title":"Hum Mol Genet"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1056\/NEJM199809033391002","article-title":"Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis","volume":"339","author":"Cohn JA","year":"1998","unstructured":"Cohn JA, Friedman KJ, Noone PG, Knowles MR, Silverman LM, Jowell PS. Relation between mutations of the cystic fibrosis gene and idiopathic pancreatitis. N Engl J Med. 1998, 339:653-8. 10.1056\/NEJM199809033391002","journal-title":"N Engl J Med"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1097\/00063198-200311000-00009","article-title":"Nonclassic cystic fibrosis and CFTR-related diseases","volume":"9","author":"Boyle MP","year":"2003","unstructured":"Boyle MP. Nonclassic cystic fibrosis and CFTR-related diseases. Curr Opin Pulm Med. 2003, 9:498-503. 10.1097\/00063198-200311000-00009","journal-title":"Curr Opin Pulm Med"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1186\/rr82","article-title":"'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations","volume":"2","author":"Noone PG","year":"2001","unstructured":"Noone PG, Knowles MR. 'CFTR-opathies': disease phenotypes associated with cystic fibrosis transmembrane regulator gene mutations. Respir Res. 2001, 2:328-32. 10.1186\/rr82","journal-title":"Respir Res"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1146\/annurev-med-042120-020148","article-title":"Clinical phenotypes of cystic fibrosis carriers","volume":"73","author":"Polgreen PM","year":"2022","unstructured":"Polgreen PM, Comellas AP. Clinical phenotypes of cystic fibrosis carriers. Annu Rev Med. 2022, 73:563-74. 10.1146\/annurev-med-042120-020148","journal-title":"Annu Rev Med"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.3390\/genes12081178","article-title":"Effectiveness of elexacaftor\/tezacaftor\/ivacaftor therapy in three subjects with the cystic fibrosis genotype Phe508del\/unknown and advanced lung disease","volume":"12","author":"Terlizzi V","year":"2021","unstructured":"Terlizzi V, Colangelo C, Marsicovetere G, et al.. Effectiveness of elexacaftor\/tezacaftor\/ivacaftor therapy in three subjects with the cystic fibrosis genotype Phe508del\/unknown and advanced lung disease. Genes (Basel). 2021, 12:1178. 10.3390\/genes12081178","journal-title":"Genes (Basel)"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.3390\/antibiotics10070828","article-title":"Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del\/Unknown Genotype","volume":"10","author":"Comegna M","year":"2021","unstructured":"Comegna M, Terlizzi V, Salvatore D, et al.. Elexacaftor-Tezacaftor-Ivacaftor Therapy for Cystic Fibrosis Patients with The F508del\/Unknown Genotype. Antibiotics (Basel). 2021, 10:10.3390\/antibiotics10070828","journal-title":"Antibiotics (Basel)"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1038\/gim.2015.30","article-title":"Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology","volume":"17","author":"Richards S","year":"2015","unstructured":"Richards S, Aziz N, Bale S, et al.. Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015, 17:405-24. 10.1038\/gim.2015.30","journal-title":"Genet Med"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.3390\/jpm10020040","article-title":"The CFTR Mutation c.3453G &gt; C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor","volume":"10","author":"Laselva O","year":"2020","unstructured":"Laselva O, Moraes TJ, He G, et al.. The CFTR Mutation c.3453G &amp;gt; C (D1152H) Confers an Anion Selectivity Defect in Primary Airway Tissue that Can Be Rescued by Ivacaftor. J Pers Med. 2020, 10:10.3390\/jpm10020040","journal-title":"J Pers Med"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.jcf.2014.12.012","article-title":"Clinical expression of patients with the D1152H CFTR mutation","volume":"14","author":"Terlizzi V","year":"2015","unstructured":"Terlizzi V, Carnovale V, Castaldo G, et al.. Clinical expression of patients with the D1152H CFTR mutation. J Cyst Fibros. 2015, 14:447-52. 10.1016\/j.jcf.2014.12.012","journal-title":"J Cyst Fibros"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1172\/JCI639","article-title":"Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation","volume":"101","author":"Cuppens H","year":"1998","unstructured":"Cuppens H, Lin W, Jaspers M, et al.. Polyvariant mutant cystic fibrosis transmembrane conductance regulator genes. The polymorphic (Tg)m locus explains the partial penetrance of the T5 polymorphism as a disease mutation. J Clin Invest. 1998, 101:487-96. 10.1172\/JCI639","journal-title":"J Clin Invest"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.3390\/genes12020206","article-title":"Current status of genetic diagnosis laboratories and frequency of genetic variants associated with cystic fibrosis through a newborn-screening program in Turkey","volume":"12","author":"Bozdogan ST","year":"2021","unstructured":"Bozdogan ST, Mujde C, Boga I, et al.. Current status of genetic diagnosis laboratories and frequency of genetic variants associated with cystic fibrosis through a newborn-screening program in Turkey. Genes (Basel). 2021, 12:206. 10.3390\/genes12020206","journal-title":"Genes (Basel)"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.3390\/ijms24065199","article-title":"CFTR modulators rescue the activity of CFTR in colonoids expressing the complex allele p.[R74W;V201M;D1270N]\/dele22_24","volume":"24","author":"Kleinfelder K","year":"2023","unstructured":"Kleinfelder K, Somenza E, Farinazzo A, et al.. CFTR modulators rescue the activity of CFTR in colonoids expressing the complex allele p.[R74W;V201M;D1270N]\/dele22_24. Int J Mol Sci. 2023, 24:5199. 10.3390\/ijms24065199","journal-title":"Int J Mol Sci"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1183\/13993003.00629-2017","article-title":"European Respiratory Society guidelines for the management of adult bronchiectasis","volume":"50","author":"Polverino E","year":"2017","unstructured":"Polverino E, Goeminne PC, McDonnell MJ, et al.. European Respiratory Society guidelines for the management of adult bronchiectasis. Eur Respir J. 2017, 50:1700629. 10.1183\/13993003.00629-2017","journal-title":"Eur Respir J"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.3390\/jpm11090859","article-title":"Increased prevalence of celiac disease in patients with cystic fibrosis: a systematic review and meta-analysis","volume":"11","author":"Imrei M","year":"2021","unstructured":"Imrei M, N\u00e9meth D, Szak\u00e1cs Z, et al.. Increased prevalence of celiac disease in patients with cystic fibrosis: a systematic review and meta-analysis. J Pers Med. 2021, 11:859. 10.3390\/jpm11090859","journal-title":"J Pers Med"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1186\/s12950-017-0176-1","article-title":"Neutrophil extracellular traps and the dysfunctional innate immune response of cystic fibrosis lung disease: a review","volume":"14","author":"Law SM","year":"2017","unstructured":"Law SM, Gray RD. Neutrophil extracellular traps and the dysfunctional innate immune response of cystic fibrosis lung disease: a review. J Inflamm (Lond). 2017, 14:29. 10.1186\/s12950-017-0176-1","journal-title":"J Inflamm (Lond)"}],"container-title":["Cureus"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.cureus.com\/articles\/158385-variability-of-clinical-presentation-in-patients-heterozygous-for-the-f508del-cystic-fibrosis-variant-a-series-of-three-cases-and-a-review-of-the-literature","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2024,2,9]],"date-time":"2024-02-09T20:00:59Z","timestamp":1707508859000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.cureus.com\/articles\/158385-variability-of-clinical-presentation-in-patients-heterozygous-for-the-f508del-cystic-fibrosis-variant-a-series-of-three-cases-and-a-review-of-the-literature"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,6,9]]},"references-count":21,"URL":"https:\/\/doi.org\/10.7759\/cureus.40185","relation":{},"ISSN":["2168-8184"],"issn-type":[{"value":"2168-8184","type":"print"}],"subject":[],"published":{"date-parts":[[2023,6,9]]}}}